Showing entry for BESTROPHINOPATHY, AUTOSOMAL RECESSIVE


　 　 　 　 　 　 　 　 　 　 　 　 　 　 　 　
General Disease Information
BXGD IdBXGD019958
Disease NameBESTROPHINOPATHY, AUTOSOMAL RECESSIVE
Disease CUI IdC3888198
MeSH Codes C16   C11  
Disease Class NameCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
Semantic TypeDisease or Syndrome
Human Phenotype Ontology Id   
Human Phenotype Ontology Term
Disease Ontology Id DOID:7  
Disease Ontology Class Namedisease of anatomical entity
Disorder Network disorder-protein-compound-food associations
The  disease-related  target proteins
Proteins
Uniport Id BXGT Id Protein Name Gene Status Protein Class
Uniport Id BXGT Id Protein name Gene Status Protein class
P00797 BXGT005658 Renin 5972 reviewed Enzyme
P01019 BXGT005717 Angiotensinogen 183 reviewed Enzyme modulator
P02794 BXGT005967 Ferritin heavy chain 2495 reviewed Storage
P04040 BXGT006132 Catalase 847 reviewed Enzyme
P08235 BXGT006751 Mineralocorticoid receptor 4306 reviewed Nuclear receptor
P12821 BXGT007849 Angiotensin-converting enzyme 1636 reviewed Enzyme
P15692 BXGT008147 Vascular endothelial growth factor A 7422 reviewed Signaling
P30556 BXGT009441 Type-1 angiotensin II receptor 185 reviewed G-protein coupled receptor
P82279 BXGT011972 Protein crumbs homolog 1 23418 reviewed
Q03933 BXGT012740 Heat shock factor protein 2 3298 reviewed Transcription factor
Q13315 BXGT013339 Serine-protein kinase ATM 472 reviewed Kinase
The  disease-related  compounds
Compounds
BXGC Id Compound Name Structure Molecular Weight Number of targets?Number of times compound connecting the disease , higher numbers indicate the compound is more associated with the disease
The  disease-related  foods
Foods
BXGF Id Food Name Scientific Name Food Group Number of compounds in food?Number of compounds in food that connecting disease, higher numbers indicate the more compounds in food are more associated with the dusease